publication:

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation (2012)

Author(s): Tan HL, Glen E, Topf A, Hall D, O'Sulliyan JJ, Sneddon L, Wren C, Avery P, Lewis RJ, ten Dijke P, Arthur HM, Goodship JA, Keavney BD

      • Date: 14-02-2012
      • Journal: Human Mutation
      • Volume: 33
      • Issue: 4
      • Pages: 720-727
      • Publisher: John Wiley & Sons, Inc.
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: rare genetic variants congenital heart defects BMP SMAD BONE MORPHOGENETIC PROTEIN-2 HEART-DEFECTS OUTFLOW-TRACT FUNCTIONAL-CHARACTERIZATION NKX2.5 MUTATIONS I RECEPTORS DISEASE MOUSE BMP2 DIFFERENTIATION

      Staff

      Dr Peter Avery
      Senior Lecturer